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mannosidase alpha class 1B member 1
Summary
- Gene Symbol
-
- MAN1B1
- Aliases
-
- ER alpha 1,2-mannosidase
- ERMan1
- ERManI
- MANA-ER
- MRT15
- Man9GlcNAc2-specific processing alpha-mannosidase
- alpha 1,2-mannosidase
- endoplasmic Reticulum Class I alpha-mannosidase
- endoplasmic reticulum alpha-mannosidase 1
- endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Calcium
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Glycosidase
- Intellectual disability
- Metal-binding
- Proteomics identification
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein alpha-1,2-demannosylation | ||
| protein glycosylation |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| endosome |
|
|
| endoplasmic reticulum | ||
| trans-Golgi network |
|
|
| endoplasmic reticulum quality control compartment | ||
| endoplasmic reticulum membrane |
GO Hierarchy
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
G60230HH
G40702WU
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050429 | Hailey-Hailey disease | |
| DOID:0050454 | periventricular nodular heterotopia | |
| DOID:0050570 | congenital disorder of glycosylation type I | |
| DOID:0050889 | non-syndromic intellectual disability | |
| DOID:0060262 | gallbladder disease | |
| DOID:0060762 | restrictive dermopathy | |
| DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0060862 | mal de Meleda | |
| DOID:0070129 | autosomal recessive cutis laxa type IID |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000527 | Long eyelashes |
| HP:0000540 | Hypermetropia |
| HP:0000708 | Atypical behavior |
| HP:0000717 | Autism |
| HP:0000718 | Aggressive behavior |
| HP:0000729 | Autistic behavior |
| HP:0000768 | Pectus carinatum |
| HP:0000973 | Cutis laxa |
| HP:0001249 | Intellectual disability |
| Disease ID | Disease Name |
|---|---|
| OMIM:614202 |
|
| ORPHA:397941 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 113901893 | BOBOX20535 | ||
| 105418968 | TAKRU29459 | ||
| 102003573 | CHILA21639 | ||
| 105712240 | AOTNA27167 | ||
| 110205295 | PHACI05850 | ||
| 101977958 | ICTTR17916 | ||
| 101612155 | JACJA05688 | ||
| 118313379 | SCOMX32038 | ||
| 102439240 | MYOLU19748 | ||
| 117032113 | RHIFE21020 |
